Patients with the TFE3-associated neurodevelopmental syndrome usually have a characteristic triad. Linear white patches on skin that are usually noticed at birth, moderate to severe intellectual disability, and lysosomal storage-like features, mainly progressive coarsening of facial features.
Many patients have been noted to have other medical problems including low blood sugar at birth, low muscle tone, seizures, hearing loss, autism, strabismus, hand stereotypes, umbilical hernia, obesity, and skeletal problems affecting hips, spine, and legs. Imaging evaluation in some patients has shown large liver and spleen, gallstones, and brain anomalies.
TFE3